rs760436036
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 5 | Familial Hypercholesterolemia |
(T;T) | 0 | common in clinvar |
Make rs760436036(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11120419 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs760436036 |
dbSNP (classic) | rs760436036 |
ClinGen | rs760436036 |
ebi | rs760436036 |
HLI | rs760436036 |
Exac | rs760436036 |
Gnomad | rs760436036 |
Varsome | rs760436036 |
LitVar | rs760436036 |
Map | rs760436036 |
PheGenI | rs760436036 |
Biobank | rs760436036 |
1000 genomes | rs760436036 |
hgdp | rs760436036 |
ensembl | rs760436036 |
geneview | rs760436036 |
scholar | rs760436036 |
rs760436036 | |
pharmgkb | rs760436036 |
gwascentral | rs760436036 |
openSNP | rs760436036 |
23andMe | rs760436036 |
SNPshot | rs760436036 |
SNPdbe | rs760436036 |
MSV3d | rs760436036 |
GWAS Ctlg | rs760436036 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs760436036(A;A) rs760436036(C;C) |
Alt | rs760436036(A;A) rs760436036(C;C) |
Reference | Rs760436036(T;T) |
Significance | Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11231095T>A |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000238543.1, |